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rs786204761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204761(A;A)
Make rs786204761(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position86027490
GeneCHM
is asnp
is mentioned by
dbSNPrs786204761
dbSNP (classic)rs786204761
ClinGenrs786204761
ebirs786204761
HLIrs786204761
Exacrs786204761
Gnomadrs786204761
Varsomers786204761
LitVarrs786204761
Maprs786204761
PheGenIrs786204761
Biobankrs786204761
1000 genomesrs786204761
hgdprs786204761
ensemblrs786204761
geneviewrs786204761
scholarrs786204761
googlers786204761
pharmgkbrs786204761
gwascentralrs786204761
openSNPrs786204761
23andMers786204761
SNPshotrs786204761
SNPdbers786204761
MSV3drs786204761
GWAS Ctlgrs786204761
Max Magnitude0
ClinVar
Risk rs786204761(A;A) rs786204761(T;T)
Alt rs786204761(A;A) rs786204761(T;T)
Reference Rs786204761(G;G)
Significance Pathogenic
Disease not provided Choroideremia
Variation info
Gene CHM
CLNDBN not provided Choroideremia
Reversed 1
HGVS NC_000023.10:g.85282494C>A; NC_000023.10:g.85282494C>T
CLNSRC
CLNACC RCV000354112.1, RCV000169622.1,